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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for ENO1 |
 Gene summary |
| Gene information | Gene symbol | ENO1 | Gene ID | 2023 |
| Gene name | enolase 1 | |
| Synonyms | ENO1L1|HEL-S-17|MPB1|NNE|PPH | |
| Cytomap | 1p36.23 | |
| Type of gene | protein-coding | |
| Description | alpha-enolasec-myc promoter-binding protein-12-phospho-D-glycerate hydro-lyaseMYC promoter-binding protein 1alpha enolase like 1enolase 1, (alpha)enolase-alphaepididymis secretory protein Li 17non-neural enolasephosphopyruvate hydrataseplasminog | |
| Modification date | 20180523 | |
| UniProtAcc | P06733 | |
| Context | PubMed: ENO1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| ENO1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 2005901 |
| ENO1 | GO:0030308 | negative regulation of cell growth | 10082554 |
| ENO1 | GO:0045892 | negative regulation of transcription, DNA-templated | 10082554 |
| ENO1 | GO:1903298 | negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway | 15459207 |
| ENO1 | GO:2001171 | positive regulation of ATP biosynthetic process | 15459207 |
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Exon skipping events across known transcript of Ensembl for ENO1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for ENO1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ENO1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_21542 | 1 | 8921063:8921488:8922945:8923004:8923293:8923402 | 8922945:8923004 | ENSG00000074800.9 | ENST00000234590.4,ENST00000464920.1 |
| exon_skip_21555 | 1 | 8923293:8923402:8923949:8924151:8925343:8925541 | 8923949:8924151 | ENSG00000074800.9 | ENST00000234590.4,ENST00000464920.1 |
| exon_skip_21570 | 1 | 8928046:8928116:8930510:8930569:8931949:8932045 | 8930510:8930569 | ENSG00000074800.9 | ENST00000234590.4,ENST00000497492.1 |
| exon_skip_21576 | 1 | 8930510:8930569:8931949:8932045:8934882:8934973 | 8931949:8932045 | ENSG00000074800.9 | ENST00000234590.4,ENST00000497492.1 |
| exon_skip_21582 | 1 | 8931949:8932045:8934882:8934976:8938638:8938735 | 8934882:8934976 | ENSG00000074800.9 | ENST00000492343.1,ENST00000486051.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ENO1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_21542 | 1 | 8921063:8921488:8922945:8923004:8923293:8923402 | 8922945:8923004 | ENSG00000074800.9 | ENST00000234590.4,ENST00000464920.1 |
| exon_skip_21555 | 1 | 8923293:8923402:8923949:8924151:8925343:8925541 | 8923949:8924151 | ENSG00000074800.9 | ENST00000234590.4,ENST00000464920.1 |
| exon_skip_21570 | 1 | 8928046:8928116:8930510:8930569:8931949:8932045 | 8930510:8930569 | ENSG00000074800.9 | ENST00000234590.4,ENST00000497492.1 |
| exon_skip_21576 | 1 | 8930510:8930569:8931949:8932045:8934882:8934973 | 8931949:8932045 | ENSG00000074800.9 | ENST00000234590.4,ENST00000497492.1 |
| exon_skip_21582 | 1 | 8931949:8932045:8934882:8934976:8938638:8938735 | 8934882:8934976 | ENSG00000074800.9 | ENST00000486051.1,ENST00000492343.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ENO1 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000234590 | 8922945 | 8923004 | Frame-shift |
| ENST00000234590 | 8923949 | 8924151 | Frame-shift |
| ENST00000234590 | 8930510 | 8930569 | Frame-shift |
| ENST00000234590 | 8931949 | 8932045 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000234590 | 8922945 | 8923004 | Frame-shift |
| ENST00000234590 | 8923949 | 8924151 | Frame-shift |
| ENST00000234590 | 8930510 | 8930569 | Frame-shift |
| ENST00000234590 | 8931949 | 8932045 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ENO1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000234590 | 1800 | 434 | 8931949 | 8932045 | 206 | 301 | 28 | 60 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000234590 | 1800 | 434 | 8931949 | 8932045 | 206 | 301 | 28 | 60 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for ENO1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_21555 | 8923950 | 8924151 | 8924065 | 8924065 | Frame_Shift_Del | C | - | p.D319fs |
| KICH | TCGA-KN-8436-01 | exon_skip_21542 | 8922946 | 8923004 | 8922983 | 8922983 | Nonsense_Mutation | G | A | p.R400* |
| PRAD | TCGA-EJ-7330-01 | exon_skip_21542 | 8922946 | 8923004 | 8923006 | 8923006 | Splice_Site | T | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| NCIH841_LUNG | 8930511 | 8930569 | 8930533 | 8930540 | Frame_Shift_Del | ATAGTTTT | - | p.KTI71fs |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8923950 | 8924151 | 8924002 | 8924002 | Missense_Mutation | A | G | p.C339R |
| RCCFG2_KIDNEY | 8923950 | 8924151 | 8924014 | 8924014 | Missense_Mutation | T | C | p.K335E |
| HCC2998_LARGE_INTESTINE | 8923950 | 8924151 | 8924041 | 8924041 | Missense_Mutation | T | G | p.K326Q |
| DIPG007_CENTRAL_NERVOUS_SYSTEM | 8923950 | 8924151 | 8924119 | 8924119 | Missense_Mutation | C | T | p.D300N |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 8930511 | 8930569 | 8930530 | 8930530 | Missense_Mutation | G | A | p.A74V |
| LU99_LUNG | 8930511 | 8930569 | 8930542 | 8930542 | Missense_Mutation | T | C | p.N70S |
| TE10_OESOPHAGUS | 8931950 | 8932045 | 8931992 | 8931992 | Missense_Mutation | G | C | p.L47V |
| OC316_OVARY | 8931950 | 8932045 | 8932010 | 8932010 | Missense_Mutation | T | C | p.T41A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ENO1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ENO1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ENO1 |
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RelatedDrugs for ENO1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P06733 | DB01593 | Zinc | Alpha-enolase | small molecule | approved|investigational | |
| P06733 | DB14487 | Zinc acetate | Alpha-enolase | small molecule | approved|investigational | |
| P06733 | DB14533 | Zinc chloride | Alpha-enolase | small molecule | approved|investigational |
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RelatedDiseases for ENO1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ENO1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| ENO1 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
| ENO1 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| ENO1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| ENO1 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| ENO1 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| ENO1 | C0021364 | Male infertility | 1 | CTD_human |
| ENO1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| ENO1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| ENO1 | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| ENO1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
| ENO1 | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| ENO1 | C0029456 | Osteoporosis | 1 | CTD_human |
| ENO1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| ENO1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| ENO1 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| ENO1 | C0520459 | Necrotizing Enterocolitis | 1 | CTD_human |
| ENO1 | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
| ENO1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| ENO1 | C2239176 | Liver carcinoma | 1 | CTD_human |
| ENO1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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